title: [Visual pigment genes for color vision defects].
abstract: Applying recombinant DNA techniques, the structures of red pigment gene (RPG) and green pigment gene (GPG) were analyzed for 43 patients with protan or deutan (including 3 females), 4 normal relatives and 3 carriers out of 3 families, as well as 11 normal controls. Abnormality of RPG was detected in all 19 protan and that of GPG was found in 14 out of 24 deutan. In about 80% (32/40) of protan and deutan the changing of exon 5 for RPG or GPG was discovered. In protan the normal RPG was replaced by a 5' red -3' green hybrid gene. Some of the deutan had no GPG, some had 5' green -3' red hybrid gene with or without GPG. Furthermore, the exon 5 of RPG and GPG was amplified by polymerase chain reaction (PCR) and further analyzed by Rsa I digestion. The results for PCR are identical to that of Southern blot hybridization.
authors.affiliation: Eye Research Institute, Zhongshan Ophthalmic Center, Sun Yat-sen University of Medical Sciences, Guangzhou, China.
authors.forename: Q
authors.initials: Q
authors.lastname: Zhang
authors.forename: W
authors.initials: W
authors.lastname: Mao
authors.forename: Q
authors.initials: Q
authors.lastname: Ma
authors.forename: R
authors.initials: R
authors.lastname: Zeng
authors.forename: L
authors.initials: L
authors.lastname: Wu
authors.forename: D Z
authors.initials: DZ
authors.lastname: Wu
authors.forename: Y
authors.initials: Y
authors.lastname: Chen
mesh_terms: D003118:Color Perception / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D012168:Retinal Pigments / Q000235:genetics*
chemical_list: D012168:Retinal Pigments